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Heart Disease (Expert Forum)
Two different genetic mutations
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Two different genetic mutations
by David S., Sep 06, 2000 12:00AM
We have 2 children with two different medical situations. We have a 4 yr. old son with L3-L5 myelomeningocele, along with hydrocephalus. When we were expecting our second child my wife increased her folic acid intake knowing the risk goes up after having your first child with Spina Bifida. All tests showed clear for Spina Bifida so we were shocked when our 2nd child (girl) went into the emergency room at 4 days old for an incident where she stopped breathing and turned blue. After having an ECG they found she had long qt syndrome, she also has 1st & 2nd degree heart block. She has a pacemaker and is on propranolol and labetalol. She is now 8 months old. We were all checked for the long qt and she is the only one in our family (extended included) with this disorder. Our question is have you ever known of a family who has had 2 different children with different genetic mutations? Especially if they are the two our children have. Any information would be great. Thank You David S.
Doctor's Answer
by Cleveland Clinic, MD, Sep 06, 2000 12:00AM
, Sep 06, 2000 12:00AM
Dear David,
I don't know of a link between the two or of any family series of similar cases. Have you talked to a geneticist? Any medical school should have one on staff that you could make an appointment with. If anyone reading this has any additional information please pass it along. I'm sure this is a difficult situation for you. All my best wishes to you and your family.
I don't know of a link between the two or of any family series of similar cases. Have you talked to a geneticist? Any medical school should have one on staff that you could make an appointment with. If anyone reading this has any additional information please pass it along. I'm sure this is a difficult situation for you. All my best wishes to you and your family.
Member Comments (2)
by David S., Sep 08, 2000 12:00AM
I also have an infant with long qt syndrome so I can understand what you are going through on that end, as far as other children with another medical problem no we don't have that experience but I will ask around if anyone knows of this. God Bless.
